regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHACTR2_chr6_143672965_143836185 | 143779899 | TTTATATT others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00741.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0180a0001c0001t0002g0032a0001c0001t0002g0054others(34): Show | 37 | 310 | 0.1194 | -10 | c.164 others(29): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143805479 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 HG02280.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0011a0001c0001t0025a0001c0001t0041others(10): Show | a0001c0001t0011g0305a0001c0001t0025g0240a0001c0001t0041g0309others(10): Show | 13 | 310 | 0.0419 | -10 | c.184 others(29): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143826550 | CTAGACAG others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02630.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0060a0001c0003t0059a0001c0003t0135 | a0001c0001t0060g0033a0001c0003t0059g0015a0001c0003t0135g0131 | 3 | 310 | 0.0097 | -10 | c.*28 others(21): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 13/13 | 2866 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
PHACTR2_chr6_143672965_143836185 | 143827155 | AATATATA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01256.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0036a0001c0001t0085others(7): Show | a0001c0001t0001g0029a0001c0001t0001g0061a0001c0001t0001g0078others(32): Show | 35 | 310 | 0.1129 | -10 | c.*35 others(21): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 13/13 | 3501 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
PHACTR3_chr20_59599540_59852711 | 59635099 | CTCTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0006 | 1 | 250 | 0.0040 | -10 | c.118 others(29): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59657257 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0064 | 1 | 250 | 0.0040 | -10 | c.118 others(29): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59668870 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0085others(32): Show | 35 | 250 | 0.1400 | -10 | c.118 others(29): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59674166 | CAAGGGCA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG02015.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0142others(4): Show | 7 | 250 | 0.0280 | -10 | c.119 others(29): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674832 | TTTCTGCC others(3): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 250 | 0.0040 | -10 | c.119 others(29): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59674891 | TCTGCCTT others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0071a0001c0001t0008g0158 | 2 | 250 | 0.0080 | -10 | c.119 others(29): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59716206 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00735.hp2 others(27): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0040a0001c0001t0001g0047others(27): Show | 30 | 250 | 0.1200 | -10 | c.119 others(29): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28409951 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0021 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(3): Show | 6 | 228 | 0.0263 | -10 | c.16+ others(25): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28444214 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 NA19030.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0123a0002c0002t0007g0124 | 2 | 228 | 0.0088 | -10 | c.17- others(27): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28448426 | AAAAGGAA others(3): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0198 | 1 | 228 | 0.0044 | -10 | c.17- others(27): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28458098 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0038a0002c0002t0043 | a0002c0002t0038g0126a0002c0002t0043g0153 | 2 | 228 | 0.0088 | -10 | c.17- others(23): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28467379 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0011 | a0001c0001t0001a0001c0001t0020a0002c0002t0002others(14): Show | a0001c0001t0001g0016a0001c0001t0020g0013a0002c0002t0002g0142others(69): Show | 72 | 228 | 0.3158 | -10 | c.823 others(25): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28476520 | GTTTTTTG others(3): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02451.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0091a0001c0005t0008g0092a0001c0005t0008g0093others(2): Show | 5 | 228 | 0.0219 | -10 | c.160 others(27): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28499462 | ATTTGTTT others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG01928.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026a0001c0001t0005g0047a0001c0001t0005g0048others(5): Show | 8 | 228 | 0.0351 | -10 | c.*29 others(21): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 14/14 | 2937 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
PHAF1_chr16_67104941_67153544 | 67107249 | CGTGTGTG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02602.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0205a0001c0001t0001g0209a0001c0001t0003g0191 | 3 | 230 | 0.0130 | -10 | c.-29 others(21): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 2691 | chr16 | TogoVar | ||||||
PHAF1_chr16_67104941_67153544 | 67108611 | GTATTACC others(3): Show |
G | upstream_gene_variant | MODIFIER | NA18962.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0062 | 2 | 230 | 0.0087 | -10 | c.-15 others(21): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 1329 | chr16 | TogoVar | ||||||
PHC1_chr12_8909509_8946467 | 8927903 | TTCTTTCT others(3): Show |
T | intron_variant | MODIFIER | NA18940.hp1 NA18967.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0018 | a0001c0003t0001g0052a0001c0003t0018g0052 | 2 | 368 | 0.0054 | -10 | c.613 others(27): Show |
PHC1 | ENSG00000111752.11 | transcript | ENST00000544916.6 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PHC1_chr12_8909509_8946467 | 8927905 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 NA18955.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066a0001c0002t0001g0077 | 2 | 368 | 0.0054 | -10 | c.613 others(27): Show |
PHC1 | ENSG00000111752.11 | transcript | ENST00000544916.6 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PHC2_chr1_33318626_33436095 | 33356267 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0249 | 1 | 370 | 0.0027 | -10 | c.977 others(27): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33364390 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014 | a0001c0001t0006g0246a0001c0001t0006g0247a0001c0001t0006g0248others(2): Show | 5 | 370 | 0.0135 | -10 | c.976 others(27): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33432234 | GTTTTTTG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0169a0001c0001t0007g0170a0001c0001t0007g0171others(2): Show | 5 | 370 | 0.0135 | -10 | c.-13 others(21): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 1140 | chr1 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170163861 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(110): Show |
a0001a0007a0009 | a0001c0001a0007c0009a0009c0010 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(18): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(109): Show | 113 | 332 | 0.3404 | -10 | c.414 others(27): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 4/14 | chr3 | TogoVar | ||||||
PHETA2_chr22_42069248_42084438 | 42083942 | ATGAGACC others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 406 | 0.0025 | -10 | c.*58 others(21): Show |
PHETA2 | ENSG00000177096.9 | transcript | ENST00000321753.8 | protein_coding | 4505 | chr22 | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22035999 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0143a0001c0001t0147 | a0001c0001t0143g0034a0001c0001t0147g0035 | 2 | 231 | 0.0087 | -10 | c.119 others(27): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22041265 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0001t0021a0001c0001t0118others(1): Show | a0001c0001t0004g0155a0001c0001t0021g0013a0001c0001t0021g0014others(2): Show | 5 | 231 | 0.0217 | -10 | c.187 others(27): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22098795 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18612.hp1 NA18970.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0012 | a0001c0001t0003g0072a0001c0001t0009g0144a0001c0001t0012g0056 | 3 | 231 | 0.0130 | -10 | c.934 others(25): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22113005 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0214 | 1 | 231 | 0.0043 | -10 | c.117 others(29): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22176396 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0042 | 1 | 231 | 0.0043 | -10 | c.148 others(29): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22176398 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0145 | a0001c0004t0145g0010 | 1 | 231 | 0.0043 | -10 | c.148 others(29): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22230229 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01070.hp2 NA18939.hp2 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0078a0001c0001t0129a0001c0001t0139 | a0001c0001t0078g0201a0001c0001t0129g0069a0001c0001t0139g0101 | 3 | 231 | 0.0130 | -10 | c.207 others(29): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22232596 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG02056.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013a0001c0001t0021others(20): Show | a0001c0001t0009g0144a0001c0001t0009g0200a0001c0001t0009g0214others(26): Show | 29 | 231 | 0.1255 | -10 | c.207 others(29): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249208 | CGTGTGTG others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG02622.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0082a0001c0001t0141a0001c0002t0081others(1): Show | a0001c0001t0082g0005a0001c0001t0141g0031a0001c0002t0081g0114others(1): Show | 4 | 231 | 0.0173 | -10 | c.*12 others(21): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1278 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PHF10_chr6_169698902_169729500 | 169706723 | TACATACA others(3): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0087a0001c0001t0002g0188a0001c0001t0006g0156 | 3 | 394 | 0.0076 | -10 | c.111 others(29): Show |
PHF10 | ENSG00000130024.15 | transcript | ENST00000339209.9 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
PHF10_chr6_169698902_169729500 | 169706727 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp1 others(72): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0035others(34): Show | 75 | 394 | 0.1904 | -10 | c.111 others(29): Show |
PHF10 | ENSG00000130024.15 | transcript | ENST00000339209.9 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
PHF11_chr13_49490953_49533976 | 49515455 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG02155.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0243a0001c0001t0002g0023a0001c0001t0002g0139others(2): Show | 6 | 414 | 0.0145 | -10 | c.324 others(27): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PHF12_chr17_28900250_28956518 | 28954904 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 232 | 0.0043 | -10 | c.-39 others(21): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 3387 | chr17 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 10985638 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0026 | 1 | 298 | 0.0034 | -10 | c.900 others(27): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11034539 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 298 | 0.0034 | -10 | c.145 others(29): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11117621 | GTATGTAT others(3): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02723.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0016others(6): Show | 9 | 298 | 0.0302 | -10 | c.277 others(29): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11122344 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 298 | 0.0034 | -10 | c.277 others(31): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF19_chr9_120850651_120882188 | 120872037 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0036a0001c0001t0001g0205a0001c0001t0002g0022others(3): Show | 8 | 408 | 0.0196 | -10 | c.269 others(27): Show |
PHF19 | ENSG00000119403.15 | transcript | ENST00000373896.8 | protein_coding | 3/14 | chr9 | TogoVar | ||||||
PHF19_chr9_120850651_120882188 | 120877430 | AGCCCCCG others(3): Show |
A | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 408 | 0.0025 | -10 | c.-36 others(19): Show |
PHF19 | ENSG00000119403.15 | transcript | ENST00000373896.8 | protein_coding | 243 | chr9 | TogoVar | ||||||
PHF1_chr6_33406014_33421439 | 33409705 | CTGTGTGT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01168.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0002g0003 | 6 | 363 | 0.0165 | -10 | c.-15 others(21): Show |
PHF1 | ENSG00000112511.18 | transcript | ENST00000374516.8 | protein_coding | 1308 | chr6 | TogoVar | ||||||
PHF1_chr6_33406014_33421439 | 33414485 | CACCCCCA others(3): Show |
C | frameshift_variant | HIGH | NA18975.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0031 | 1 | 363 | 0.0028 | -10 | c.886 others(17): Show |
p.Thr others(5): Show |
PHF1 | ENSG00000112511.18 | transcript | ENST00000374516.8 | protein_coding | 10/15 | 1104/2263 | 886/1704 | 296/567 | chr6 | TogoVar | ||
PHF20L1_chr8_132770388_132853807 | 132843605 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 392 | 0.0026 | -10 | c.274 others(27): Show |
PHF20L1 | ENSG00000129292.21 | transcript | ENST00000395386.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35799291 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0019 | a0001c0001t0004g0098a0001c0001t0004g0099a0001c0001t0004g0100others(11): Show | 14 | 206 | 0.0680 | -10 | c.-32 others(27): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |